Canonical Allele Identifier: CA385289311

Gene: SUOX

Linked Data

• ClinVar Variation Id: 1427282
• ClinVar RCV Id: RCV001945879
• dbSNP Id: rs1565799050
• gnomAD v4: 12-56004302-G-A
• MyVariant Identifiers: chr12:g.56398086G>A (hg19) ; chr12:g.56004302G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56004302G>A , CM000674.2:g.56004302G>A	GRCh38
NC_000012.11:g.56398086G>A , CM000674.1:g.56398086G>A	GRCh37
NC_000012.10:g.54684353G>A	NCBI36
NG_008136.1:g.12044G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266971.8:c.913G>A MANE Select	ENSP00000266971.3:p.Ala305Thr
ENST00000266971.7:c.913G>A	ENSP00000266971.3:p.Ala305Thr
ENST00000356124.8:c.913G>A	ENSP00000348440.4:p.Ala305Thr
ENST00000394109.7:c.913G>A	ENSP00000377668.3:p.Ala305Thr
ENST00000394115.6:c.913G>A	ENSP00000377674.2:p.Ala305Thr
ENST00000548274.5:c.913G>A	ENSP00000450245.1:p.Ala305Thr
ENST00000550065.1:c.913G>A	ENSP00000450264.1:p.Ala305Thr
ENST00000551841.6:c.*101G>A	ENSP00000449443.1:n.*101G>A
NM_000456.2:c.913G>A	NP_000447.2:p.Ala305Thr
NM_001032386.1:c.913G>A	NP_001027558.1:p.Ala305Thr
NM_001032387.1:c.913G>A	NP_001027559.1:p.Ala305Thr
XM_005269112.1:c.934G>A	XP_005269169.1:p.Ala312Thr
XM_017019905.2:c.934G>A	XP_016875394.1:p.Ala312Thr
XM_017019906.1:c.934G>A	XP_016875395.1:p.Ala312Thr
XM_017019907.2:c.913G>A	XP_016875396.1:p.Ala305Thr
XM_017019908.1:c.913G>A	XP_016875397.1:p.Ala305Thr
XM_024449167.1:c.934G>A	XP_024304935.1:p.Ala312Thr
NM_001032386.2:c.913G>A MANE Select	NP_001027558.1:p.Ala305Thr
NM_000456.3:c.913G>A	NP_000447.2:p.Ala305Thr
NM_001032387.2:c.913G>A	NP_001027559.1:p.Ala305Thr